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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ESR1

Variant:p.R157delFs

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ESR1

NM_000125.4:p.R157delFs

hg38:chr6:151842612 TC>T

Associated Papers

Bone Disease Associated with Inactivating Aromatase Mutations and its Management.

Cavati G et al.

Calcified Tissue International, 2025

39751875 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."